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Somatic mutations in <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> have not been found and the involvement of these genes in sporadic tumour development therefore remains unclear.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Methods<\/jats:title>\n                        <jats:p>The study group consisted of 67 primary breast tumours with and without <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic> abnormalities. Genomic alterations were profiled by high-resolution (~7 kbp) comparative genome hybridisation (CGH) microarrays. Tumour phenotypes were analysed by immunohistochemistry on tissue microarrays using selected biomarkers (ER, PR, HER-2, EGFR, CK5\/6, CK8, CK18).<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Results<\/jats:title>\n                        <jats:p>Classification of genomic profiles through cluster analysis revealed four subgroups, three of which displayed high genomic instability indices (GII). Two of these GII-high subgroups were enriched with either <jats:italic>BRCA1<\/jats:italic>- or <jats:italic>BRCA2<\/jats:italic>-related tumours whereas the third was not <jats:italic>BRCA<\/jats:italic>-related. The <jats:italic>BRCA1<\/jats:italic>-related subgroup mostly displayed non-luminal phenotypes, of which basal-like were most prominent, whereas the other two genomic instability subgroups <jats:italic>BRCA2<\/jats:italic>- and GII-high-III (non-<jats:italic>BRCA<\/jats:italic>), were almost entirely of luminal phenotype. Analysis of genome architecture patterns revealed similarities between the <jats:italic>BRCA1<\/jats:italic>- and <jats:italic>BRCA2<\/jats:italic> subgroups, with long deletions being prominent. This contrasts with the third instability subgroup, not <jats:italic>BRCA<\/jats:italic>-related, where small gains were more prominent.<\/jats:p>\n                     <\/jats:sec><jats:sec>\n                        <jats:title>Conclusions<\/jats:title>\n                        <jats:p>The results suggest that <jats:italic>BRCA1<\/jats:italic>- and <jats:italic>BRCA2<\/jats:italic>-related tumours develop largely through distinct genetic pathways in terms of the regions altered while also displaying distinct phenotypes. Importantly, we show that the development of a subset of sporadic tumours is similar to that of either familial <jats:italic>BRCA1<\/jats:italic>- or <jats:italic>BRCA2<\/jats:italic> tumours. Despite their differences, we observed clear similarities between the <jats:italic>BRCA1<\/jats:italic>- and <jats:italic>BRCA2<\/jats:italic>-related subgroups reflected in the type of genomic alterations acquired with deletions of long DNA segments being prominent. This suggests similarities in the mechanisms promoting genomic instability for <jats:italic>BRCA1<\/jats:italic>- and <jats:italic>BRCA2<\/jats:italic>-associated tumours, possibly relating to deficiency in DNA repair through homologous recombination. Indeed, this feature characterized both familial and sporadic tumours displaying <jats:italic>BRCA1<\/jats:italic>- or <jats:italic>BRCA2<\/jats:italic>-like spectrums of genomic alterations. The importance of these findings lies in the potential benefit from targeted therapy, through the use of agents leading to DNA double-strand breaks such as PARP inhibitors (olaparib) and cisplatin, for a much larger group of patients than the few <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> germline mutation carriers.<\/jats:p>\n                     <\/jats:sec>","DOI":"10.1186\/bcr2334","type":"journal-article","created":{"date-parts":[[2009,8,14]],"date-time":"2009-08-14T18:13:37Z","timestamp":1250273617000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":117,"title":["Genomic profiling of breast tumours in relation to BRCAabnormalities and phenotypes"],"prefix":"10.1186","volume":"11","author":[{"given":"Olafur Andri","family":"Stefansson","sequence":"first","affiliation":[]},{"given":"Jon Gunnlaugur","family":"Jonasson","sequence":"additional","affiliation":[]},{"given":"Oskar Thor","family":"Johannsson","sequence":"additional","affiliation":[]},{"given":"Kristrun","family":"Olafsdottir","sequence":"additional","affiliation":[]},{"given":"Margret","family":"Steinarsdottir","sequence":"additional","affiliation":[]},{"given":"Sigridur","family":"Valgeirsdottir","sequence":"additional","affiliation":[]},{"given":"Jorunn Erla","family":"Eyfjord","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2009,7,9]]},"reference":[{"key":"2298_CR1","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1038\/nrc2054","volume":"7","author":"JD Fackenthal","year":"2007","unstructured":"Fackenthal JD, Olopade OI: Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. 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